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Ataxin-3 and Its E3 Partners: Implications for Machado–Joseph Disease
Machado–Joseph disease (MJD) is the most common dominant inherited ataxia worldwide, caused by an unstable CAG trinucleotide expansion mutation within the SCA3 gene resulting in an expanded polyglutamine tract within the ataxin-3 protein. Ataxin-3 functions as a deubiquitinating enzyme (DUB), within...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3644722/ https://www.ncbi.nlm.nih.gov/pubmed/23653622 http://dx.doi.org/10.3389/fneur.2013.00046 |